Molecular pathology of genetic diseases seeks to explain why a given genetic change should result in a particular clinical phenotype. With its rapid progress, the knowledge in the field not only forms the cutting edge of biomedical research, but at the same time it has immediate application to the diagnosis of more and more diseases, and has great potential for the management of those diseases. Clinical symptoms are often the end result of a long chain of causation and complicate genetic interaction. The goals of the research in this laboratory, collaborated with multiple laboratories inside and outside the University, are to developing new tests for molecular diagnosis, and identify new genes responsible for bone and cardiovascular genetic diseases. Approaches of gene functional cloning, positional candidate gene cloning, and gene knock-out/in have been used in these studies.